{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2832592553",
  "communityStandardTitle": [
    "NM_003227.4(TFR2):c.1186C= (p.Arg396=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338882",
        "rs": 80338882
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 100630973,
          "referenceAllele": "G",
          "start": 100630972
        }
      ],
      "hgvs": [
        "NC_000007.14:g.100630973G=",
        "CM000669.2:g.100630973G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 100228596,
          "referenceAllele": "G",
          "start": 100228595
        }
      ],
      "hgvs": [
        "NC_000007.13:g.100228596G=",
        "CM000669.1:g.100228596G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 100066532,
          "referenceAllele": "G",
          "start": 100066531
        }
      ],
      "hgvs": [
        "NC_000007.12:g.100066532G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15578,
          "referenceAllele": "C",
          "start": 15577
        }
      ],
      "hgvs": [
        "NG_007989.1:g.15578C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000756"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1229,
          "referenceAllele": "C",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "ENST00000223051.8:c.1186C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223051.3:p.Arg396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740603",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000223051.8:c.1186C="
          },
          "RefSeq": {
            "hgvs": "NM_003227.4:c.1186C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000223051.3:p.Arg396="
          },
          "RefSeq": {
            "hgvs": "NP_003218.2:p.Arg396="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1227,
          "referenceAllele": "C",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "ENST00000223051.7:c.1186C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223051.3:p.Arg396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248418"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 970,
          "referenceAllele": "C",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "ENST00000431692.5:c.929C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413905.1:p.Thr310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291744"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 170,
          "referenceAllele": "C",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "ENST00000462090.5:n.170C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306436"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1474,
          "referenceAllele": "C",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "ENST00000462107.1:c.1186C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420525.1:p.Arg396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 934,
          "referenceAllele": "C",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "ENST00000465294.5:n.934C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308927"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 379,
          "referenceAllele": "C",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "ENST00000473374.5:n.379C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315132"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 335,
          "referenceAllele": "C",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "ENST00000473963.1:n.335C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 807,
          "referenceAllele": "C",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "ENST00000476304.5:n.807C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317390"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 539,
          "referenceAllele": "C",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "ENST00000490084.5:c.539C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826287941",
      "coordinates": [
        {
          "allele": "C",
          "end": 807,
          "referenceAllele": "C",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "NM_001206855.1:c.673C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193784.1:p.Arg225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017872"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829424246",
      "coordinates": [
        {
          "allele": "C",
          "end": 1227,
          "referenceAllele": "C",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "NM_003227.3:c.1186C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003218.2:p.Arg396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028487"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "XM_005250553.3:c.1186C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250610.1:p.Arg396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059218"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "XM_005250554.3:c.1186C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250611.1:p.Arg396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 433,
          "endIntronDirection": "-",
          "endIntronOffset": 182,
          "referenceAllele": "G",
          "start": 433,
          "startIntronDirection": "-",
          "startIntronOffset": 183
        }
      ],
      "hgvs": [
        "XR_927814.1:n.434-183G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826287941",
      "coordinates": [
        {
          "allele": "C",
          "end": 807,
          "referenceAllele": "C",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "NM_001206855.2:c.673C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193784.1:p.Arg225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511885"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1533,
          "referenceAllele": "C",
          "start": 1532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "XM_005250553.4:c.1186C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250610.1:p.Arg396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "XM_017012573.1:c.1186C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016868062.1:p.Arg396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829424246",
      "coordinates": [
        {
          "allele": "C",
          "end": 1229,
          "referenceAllele": "C",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "NM_003227.4:c.1186C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003218.2:p.Arg396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665940",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000223051.8:c.1186C="
          },
          "RefSeq": {
            "hgvs": "NM_003227.4:c.1186C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000223051.3:p.Arg396="
          },
          "RefSeq": {
            "hgvs": "NP_003218.2:p.Arg396="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826287941",
      "coordinates": [
        {
          "allele": "C",
          "end": 807,
          "referenceAllele": "C",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "NM_001206855.3:c.673C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193784.1:p.Arg225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714238"
    }
  ],
  "type": "nucleotide"
}